The DOI matches its Crossref record; 10 of the 10 references it cites were found in a registry or an index.
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
Open accessAbstract
Type 1 von Willebrand disease (VWD) is characterized by a personal and family history of bleeding coincident with reduced levels of normal plasma von Willebrand factor (VWF). The molecular basis of the disorder is poorly understood. The aims of this study were to determine phenotype and genotype and their relationship in patients historically diagnosed with type 1 VWD. Families were recruited in 9 European countries based on previous type 1 VWD diagnosis. Bleeding symptoms were recorded, plasma phenotype analyzed, and VWF mutation analysis performed in all index cases (ICs). Phenotypic and molecular analysis stratified patients into those with or without phenotypes suggestive of qualitative VWF defects (abnormal multimers) and with or without mutations. A total of 105 of 150 ICs (70%) had mutations identified. A subgroup with abnormal multimers (38% of ICs, 57 of 150) showed a high prevalence of VWF gene mutations (95% of ICs, 54 of 57), whereas in those with qualitatively normal VWF, fewer mutations were identified (55% of ICs, 51 of 93). About one third of the type 1 VWD cases recruited could be reconsidered as type 2. The remaining group could be considered “true” type 1 VWD, although mutations were found in only 55%.
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Cites
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ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease
James, P. D., Connell, N. T., Ameer, B., Di Paola, J., Eikenboom, J., Giraud, N., Haberichter, S., Jacobs-Pratt, V., Konkle, B., McLintock, C., et al. (2021) · Blood Advances · doi:10.1182/bloodadvances.2020003265 · Cited by 586
Self-citationThe European Hematology Association Roadmap for European Hematology Research: a consensus document
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Metadata
- Authors
- Goodeve, A., Eikenboom, J., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Schneppenheim, R., Budde, U., Ingerslev, J., Habart, D., Vorlova, Z., Holmberg, L., Lethagen, S., Pasi, J., Hill, F., Soteh, M. H., Baronciani, L., Hallden, C., Guilliatt, A., Lester, W., & Peake, I.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2006-09-19
- Volume
- 109
- Issue
- 1
- Pages
- 112-121
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2064668665
- Cited by
- 398
- References
- 10
- FWCI
- 15.13
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Goodeve, A., Eikenboom, J., Castaman, G., Rodeghiero, F., Federici, A. B., Batlle, J., Meyer, D., Mazurier, C., Goudemand, J., Schneppenheim, R., Budde, U., Ingerslev, J., Habart, D., Vorlova, Z., Holmberg, L., Lethagen, S., Pasi, J., Hill, F., Soteh, M. H., . . . Peake, I. (2007). Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. https://doi.org/10.1182/blood-2006-05-020784
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
